Canonical Allele Identifier: CA393765444

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89872200G>T (hg19) ; chr15:g.89328969G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328969G>T , CM000677.2:g.89328969G>T	GRCh38
NC_000015.9:g.89872200G>T , CM000677.1:g.89872200G>T	GRCh37
NC_000015.8:g.87673204G>T	NCBI36
NG_008218.1:g.10827C>A
NG_008218.2:g.10827C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.997C>A	ENSP00000516154.1:p.Gln333Lys
ENST00000268124.11:c.997C>A MANE Select	ENSP00000268124.5:p.Gln333Lys
ENST00000530292.3:c.598C>A	ENSP00000432885.2:p.Gln200Lys
ENST00000635986.2:c.997C>A	ENSP00000490653.2:p.Gln333Lys
ENST00000636774.1:c.997C>A	ENSP00000489799.1:p.Gln333Lys
ENST00000637264.1:c.69C>A
ENST00000666746.1:c.654C>A
ENST00000672071.1:n.1195C>A
ENST00000268124.9:c.997C>A	ENSP00000268124.5:p.Gln333Lys
ENST00000442287.6:c.997C>A	ENSP00000399851.2:p.Gln333Lys
ENST00000631044.2:c.*380C>A	ENSP00000486730.1:n.*380C>A
NM_001126131.1:c.997C>A	NP_001119603.1:p.Gln333Lys
NM_002693.2:c.997C>A	NP_002684.1:p.Gln333Lys
NM_001126131.2:c.997C>A	NP_001119603.1:p.Gln333Lys
NM_002693.3:c.997C>A MANE Select	NP_002684.1:p.Gln333Lys